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Q96D53 (ADCK4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AarF domain-containing protein kinase 4

EC=2.7.11.-
Gene names
Name:ADCK4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length544 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration. Ref.5

Subunit structure

Interacts with COQ6 and COQ7. Ref.5

Subcellular location

Mitochondrion membrane; Single-pass membrane protein. Cytoplasmcytosol. Cell membrane Ref.5.

Tissue specificity

Widely expressed, including renal podocytes. Ref.5

Involvement in disease

Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the protein kinase superfamily. ADCK protein kinase family.

Contains 1 protein kinase domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96D53-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96D53-2)

The sequence of this isoform differs from the canonical sequence as follows:
     123-163: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 544544AarF domain-containing protein kinase 4
PRO_0000271797

Regions

Transmembrane92 – 10817Helical; Potential
Domain191 – 423233Protein kinase

Natural variations

Alternative sequence123 – 16341Missing in isoform 2.
VSP_022357
Natural variant781R → C. Ref.4
Corresponds to variant rs11538384 [ dbSNP | Ensembl ].
VAR_041420
Natural variant1741H → R. Ref.4
Corresponds to variant rs3865452 [ dbSNP | Ensembl ].
VAR_029995
Natural variant1781R → W in NPHS9. Ref.5
VAR_070552
Natural variant2861D → G in NPHS9. Ref.5
VAR_070553
Natural variant3181T → M. Ref.4
Corresponds to variant rs55899516 [ dbSNP | Ensembl ].
VAR_041421
Natural variant3201R → W in NPHS9. Ref.5
VAR_070554
Natural variant3431R → W in NPHS9. Ref.5
VAR_070555
Natural variant3521T → R. Ref.4
Corresponds to variant rs36012476 [ dbSNP | Ensembl ].
VAR_041422
Natural variant4621T → M. Ref.4
Corresponds to variant rs56083906 [ dbSNP | Ensembl ].
VAR_041423
Natural variant4771R → Q in NPHS9. Ref.5
VAR_070556

Experimental info

Sequence conflict164 – 1663DNS → GTA in BAB14004. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 2.
Checksum: 4645DF579B9DFA4B

FASTA54460,069
        10         20         30         40         50         60 
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP GRGLGEEDIR 

        70         80         90        100        110        120 
RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV GLGLGVLAEM AKKSMPGGRL 

       130        140        150        160        170        180 
QSEGGSGLDS SPFLSEANAE RIVQTLCTVR GAALKVGQML SIQDNSFISP QLQHIFERVR 

       190        200        210        220        230        240 
QSADFMPRWQ MLRVLEEELG RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY 

       250        260        270        280        290        300 
PGIAQSIQSD VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL 

       310        320        330        340        350        360 
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL LTLCLRELFE 

       370        380        390        400        410        420 
FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH YIEVVKAAAD GDRDCVLQKS 

       430        440        450        460        470        480 
RDLKFLTGFE TKAFSDAHVE AVMILGEPFA TQGPYDFGSG ETARRIQDLI PVLLRHRLCP 

       490        500        510        520        530        540 
PPEETYALHR KLAGAFLACA HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW 


VDPS 

« Hide

Isoform 2 [UniParc].

Checksum: 547A81982FE22A6A
Show »

FASTA50355,853

References

« Hide 'large scale' references
[1]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Lymph and Placenta.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-166 (ISOFORM 1).
Tissue: Mammary gland.
[3]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[4]"Patterns of somatic mutation in human cancer genomes."
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. expand/collapse author list , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-78; ARG-174; MET-318; ARG-352 AND MET-462.
[5]"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. expand/collapse author list , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
RefSeqNP_001136027.1. NM_001142555.2.
NP_079152.3. NM_024876.3.
XP_005259328.1. XM_005259271.2.
XP_005259329.1. XM_005259272.2.
XP_005259330.1. XM_005259273.2.
XP_005259331.1. XM_005259274.1.
UniGeneHs.130712.

3D structure databases

ProteinModelPortalQ96D53.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123009. 3 interactions.
IntActQ96D53. 1 interaction.
STRING9606.ENSP00000315118.

Chemistry

BindingDBQ96D53.
ChEMBLCHEMBL5753.
GuidetoPHARMACOLOGY1928.

PTM databases

PhosphoSiteQ96D53.

Polymorphism databases

DMDM74731415.

Proteomic databases

PaxDbQ96D53.
PRIDEQ96D53.

Protocols and materials databases

DNASU79934.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
ENST00000450541; ENSP00000412839; ENSG00000123815. [Q96D53-2]
GeneID79934.
KEGGhsa:79934.
UCSCuc002ooq.2. human. [Q96D53-2]
uc002oor.2. human. [Q96D53-1]

Organism-specific databases

CTD79934.
GeneCardsGC19M041199.
HGNCHGNC:19041. ADCK4.
HPAHPA027229.
HPA027277.
HPA027279.
MIM615567. gene.
615573. phenotype.
neXtProtNX_Q96D53.
Orphanet93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBPA134988974.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0661.
HOGENOMHOG000201140.
HOVERGENHBG061318.
InParanoidQ96D53.
KOK08869.
OMAPCGGSWA.
OrthoDBEOG7X9G6H.
PhylomeDBQ96D53.
TreeFamTF300630.

Gene expression databases

ArrayExpressQ96D53.
BgeeQ96D53.
CleanExHS_ADCK4.
GenevestigatorQ96D53.

Family and domain databases

InterProIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMSSF56112. SSF56112. 2 hits.
ProtoNetSearch...

Other

ChiTaRSADCK4. human.
GenomeRNAi79934.
NextBio69870.
PROQ96D53.
SOURCESearch...

Entry information

Entry nameADCK4_HUMAN
AccessionPrimary (citable) accession number: Q96D53
Secondary accession number(s): Q8TAJ1, Q9HA52
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM